Canonical Allele Identifier: CA2631583608

Gene: NAGPA

Linked Data

• gnomAD v4: 16-5027968-A-ACCCCCCCCCCCCCC

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.5027973_5027974insCCCCCCCCCCCCCC , CM000678.2:g.5027973_5027974insCCCCCCCCCCCCCC	GRCh38
NC_000016.9:g.5077974_5077975insCCCCCCCCCCCCCC , CM000678.1:g.5077974_5077975insCCCCCCCCCCCCCC	GRCh37
NC_000016.8:g.5017975_5017976insCCCCCCCCCCCCCC	NCBI36
NG_028152.1:g.10973_10974insGGGGGGGGGGGGGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000312251.8:c.1126+11_1126+12insGGGGGGGGGGGGGG MANE Select	ENSP00000310998.3:n.1126+11_1126+12insGGGGGGGGGGGGGG
ENST00000649828.1:c.*298+11_*298+12insGGGGGGGGGGGGGG	ENSP00000498032.1:n.*298+11_*298+12insGGGGGGGGGGGGGG
ENST00000312251.7:c.1126+11_1126+12insGGGGGGGGGGGGGG	ENSP00000310998.3:n.1126+11_1126+12insGGGGGGGGGGGGGG
ENST00000381955.7:c.1126+11_1126+12insGGGGGGGGGGGGGG	ENSP00000371381.3:n.1126+11_1126+12insGGGGGGGGGGGGGG
ENST00000562746.5:c.*298+11_*298+12insGGGGGGGGGGGGGG	ENSP00000455900.1:n.*298+11_*298+12insGGGGGGGGGGGGGG
ENST00000563578.5:c.738+911_738+912insGGGGGGGGGGGGGG
ENST00000564397.5:n.2179+11_2179+12insGGGGGGGGGGGGGG
ENST00000565876.5:c.481-590_481-589insGGGGGGGGGGGGGG
ENST00000566137.5:n.424+11_424+12insGGGGGGGGGGGGGG
ENST00000567739.5:n.445+11_445+12insGGGGGGGGGGGGGG
ENST00000568202.5:n.989+11_989+12insGGGGGGGGGGGGGG
ENST00000569296.5:c.739+11_739+12insGGGGGGGGGGGGGG	ENSP00000465949.1:n.739+11_739+12insGGGGGGGGGGGGGG
NM_016256.3:c.1126+11_1126+12insGGGGGGGGGGGGGG	NP_057340.2:n.1126+11_1126+12insGGGGGGGGGGGGGG
XM_011522517.1:c.1126+11_1126+12insGGGGGGGGGGGGGG	XP_011520819.1:n.1126+11_1126+12insGGGGGGGGGGGGGG
XR_243285.1:n.1222+11_1222+12insGGGGGGGGGGGGGG
XM_011522517.3:c.1126+11_1126+12insGGGGGGGGGGGGGG	XP_011520819.1:n.1126+11_1126+12insGGGGGGGGGGGGGG
XR_001751908.2:n.1221+11_1221+12insGGGGGGGGGGGGGG
XR_001751909.2:n.1225+11_1225+12insGGGGGGGGGGGGGG
XR_001751910.2:n.1254+11_1254+12insGGGGGGGGGGGGGG
XR_001751911.2:n.1254+11_1254+12insGGGGGGGGGGGGGG
XR_001751912.2:n.1258+11_1258+12insGGGGGGGGGGGGGG
NM_016256.4:c.1126+11_1126+12insGGGGGGGGGGGGGG MANE Select	NP_057340.2:n.1126+11_1126+12insGGGGGGGGGGGGGG